potassium channelopathy

David S Park Marina Cerrone Gregory Morley Carolina Vasquez Steven Fowler Nian Liu Scott A Bernstein Fang-Yu Liu Jie Zhang Christopher S Rogers Silvia G Priori Larry A Chinitz Glenn I Fishman

SCN5A encodes the α subunit of the major cardiac sodium channel Na(V)1.5. Mutations in SCN5A are associated with conduction disease and ventricular fibrillation (VF); however, the mechanisms that link loss of sodium channel function to arrhythmic instability remain unresolved. Here, we generated a large-animal model of a human cardiac sodium channelopathy in pigs, which have cardiac structure a...

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Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.

Journal: :Circulation. Arrhythmia and electrophysiology 2014

Keisuke Abe Taku Machida Naokata Sumitomo Hirokazu Yamamoto Kimie Ohkubo Ichiro Watanabe Takeru Makiyama Satoki Fukae Masaki Kohno Daniel T Harrell Taisuke Ishikawa Yukiomi Tsuji Akihiko Nogami Taichi Watabe Yasushi Oginosawa Haruhiko Abe Koji Maemura Hideki Motomura Naomasa Makita

BACKGROUND Sick sinus syndrome (SSS) is a common arrhythmia often associated with aging or organic heart diseases but may also occur in a familial form with a variable mode of inheritance. Despite the identification of causative genes, including cardiac Na channel (SCN5A), the pathogenesis and molecular epidemiology of familial SSS remain undetermined primarily because of its rarity. METHODS ...

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